DISEASES

Disease-gene associations mined from literature

Literature associating TLX2 and congenital central hypoventilation syndrome

TLX2 [ENSP00000233638]

T-cell leukemia homeobox protein 2; Transcription activator that binds DNA elements with the consensus sequence 5'-CGGTAATTGG-3'. Binds DNA via its homeobox. Required for normal cell death of enteric neurons in the gastrointestinal tract. Required for normal development of the enteric nervous system, and for proper development of normal motility of the gastrointestinal tract (By similarity).

Synonyms:  TLX2,  TLX2p,  hTLX2,  F1T0F2,  O43763 ...

Linkouts:  STRING  Pharos  UniProt  OMIM